Archive | January 2020

QUOTE FOR FRIDAY:

Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement.”

U.S. Library of Medicine (NIH.gov)

Part I Moebius Syndrome

 

Moebius syndrome is a rare neurological disorder characterized by weakness or paralysis (palsy) of multiple cranial nerves, most often the 6th (abducens) and 7th (facial) nerves. Other cranial nerves are sometimes affected. The disorder is present at birth (congenital). If the 7th nerve is involved, the individual with Moebius syndrome is unable to smile, frown, pucker the lips, raise the eyebrows, or close the eyelids. If the 6th nerve is affected, the eye cannot turn outward past the midline. Other abnormalities include underdevelopment of the pectoral muscles and defects of the limbs. Moebius syndrome is not progressive. The exact cause is unknown. It appears to occur randomly (sporadically) in most cases; however, some cases occur in families suggesting that there may be a genetic component.

Introduction:

Congenital facial and abducens palsy was first described by Von Graefe (1880) and Moebius (1888), a German neurologist after whom the syndrome was later named.

Signs and Symptoms:

The abnormalities and severity of Moebius syndrome vary greatly from one person-to-another. The classically accepted diagnostic criteria include: 1) facial paralysis or weakness affecting at least one but usually both sides of the face (7th cranial nerve), 2) paralysis of sideways (lateral) movement of the eyes (6th cranial nerve); and 3) preservation of vertical movements of the eyes. Less often, other cranial nerves, including the 5th, 8th, 9th, 10th, 11th, and 12th may be affected.

Infants with Moebius syndrome may drool excessively and exhibit crossed eyes (strabismus). Because the eyes do not move from side-to-side (laterally), the child is forced to turn the head to follow objects. Infants who lack facial expression often are described as having a “mask-like” face that is especially obvious when laughing or crying. Affected infants may also have difficulties feeding, including problems swallowing and poor sucking. Corneal ulceration may occur because the eyelids remain open during sleep.

There are a wide variety of additional abnormalities. Some children with Moebius syndrome have a short, malformed tongue and/or an abnormally small jaw (micrognathia). Cleft palate may also be present. These abnormalities contribute to feeding and breathing difficulties. Children with cleft palate are prone to ear infections (otitis media). There may be external ear anomalies including underdevelopment of the outer portion of the ear (microtia) or total absence of the outer portion of the ear (anotia). If the 8th cranial nerve is affected, there is likely hearing loss. Dental abnormalities are not uncommon. There is an increased risk for childhood cavities. Some affected children have difficulties with speech and delays in speech development.

Skeletal malformations of the limbs occur in over half of children with Moebius sydrome. Lower limb malformations include clubbed feet and underdevelopment of the lower legs; upper extremities may have webbing of the fingers (syndactyly), underdevelopment or absence of the fingers, and/or underdevelopment of the hand. In a few children there may be abnormal side-to-side curvature of the spine (scoliosis), and in approximately 15% of patients underdevelopment of the chest (pectoral) muscles and the breast on one side of the body also occur (see Poland-Moebius syndrome in the Related Disorder section below).

Some affected children exhibit delay in attaining certain milestones such as crawling or walking, most likely due to upper body weakness; however, most children eventually catch-up. Moebius syndrome rarely is associated with minor intellectual disability. Some children have been classified as being on the “autistic spectrum”. The exact relationship between Moebius syndrome and autism is unknown. Some studies have suggested that autism spectrum disorders occur with greater frequency in children with Moebius syndrome; other studies have not confirmed this and suggest that any such relationship is overstated. Moebius syndrome is often associated with a variety of social and psychological consequences. The lack of facial expressions and the inability to smile can cause observers to misinterpret what an affected individual is thinking or feeling or intends. Although clinical anxiety and depression are not more common in children and adolescents with Moebius syndrome, affected individuals may avoid social situations due to apprehension and frustration.

 

 

QUOTE FOR WEDNESDAY:

“Staying at a healthy weight, being physically active, and limiting how much alcohol you drink can help reduce your risk of breast cancer.”

American Cancer Society

 

QUOTE FOR MONDAY:

“Winter can be brutal, but research shows you might get some health benefits during the colder months. When it’s cold, your body has to work harder to maintain its core body temperature — and as a result, you might burn more calories. Colder temperatures can help reduce both allergies and inflammation.”

Harvard Health Publishing

Is cold weather good or bad for your health?

the cold2The cold3the cold 4

It depends. Cold weather can be hard on your health in some ways, but it also be good for it, reports the January 2010 issue of the Harvard Health Letter. Most of us spend the winter trying to stay warm, but a little bit of exposure to cold may not be such a bad thing. There are two types of fat in the human body: white fat and brown fat. Brown fat is the heat-producing, calorie-burning fat that babies need to regulate their body temperatures. Most of it disappears with age, but adults retain some brown fat. Dutch researchers reported findings last year that showed that moderately cool temperatures of 61° F activated brown fat in 23 of 24 study volunteers. This is a good thing because brown fat burns calories more efficiently than white fat, and so may help control weight.

It can be tempting to spend the coldest mornings safely tucked under the covers; it’s only natural to want to avoid the most brutal temps. But during periods of such weather-induced isolation, we tend to reach out to contact our closest friends and family on the phone, and end up chatting with them for longer than usual, according to studies of 2012.

For some insects and even animals the freezing cold is not suitable for them and regarding our health well look here; during the summer of 2012 — when West Nile cases were climbing — much was made of the milder 2011-2012 winter and its effect on the disease-spreading mosquito population. The pests thrive in milder climates, meaning they were able to survive — and breed — all winter, just waiting to feast come spring. Freezing or below-freezing temps might kill off some skeeters (and ticks), thereby protecting you from the illnesses they are known to spread.

Through Psychology Today, some research suggests that if the weather never changes, you start taking that sunshine for granted. Shivering through the cold makes those warm spring days seem even better when they finally come along.

There’s a reason putting ice on an injury works. That drop in temperature reduces inflammation in, say, a sprained ankle or stubbed toe. But the theory works on a much grander scale, too — cold temperatures can reduce inflammation and pain all over.  In one recent study, researchers in Finland studied 10 women as they took 20-second plunges into near-freezing water, and also partook in sessions of cold-body cryotherapy (exposing the body to ultra-low temps for brief periods). After being exposed to the cold, participants’ blood showed three times as much norepinephrine, a naturally occurring chemical that may help suppress pain.  In fact, athletes and spa-goers even have a remedy of sorts available for muscle recovery. A 2011 study found that, at extremely low temperatures, such treatments, called cryotherapy, did more for athletes to recover from physical activity than simply resting. Runners who were exposed to temperatures as low as -166 degrees F recovered from exercise faster than those who given other therapies or told to rest, The Atlantic reported. Live in a cold-weather climate? Then you’re well aware that we’ve got a few more weeks of icy temps to endure. But those bitter winds could be doing you more good than you’d think: Preliminary research shows they may lead to a longer life.

In a study published in a recent issue of cell, researchers from the Department of Molecular and Integrative Physiology at the University of Michigan discovered that worms exposed to cold temperatures demonstrate a genetic response that triggers longer life spans.

Studies have shown that exposure to freezing temperatures, even for short periods, can significantly increase your energy expenditure for hours afterward. Swim a few laps in cool water, or take a power walk in winter weather, to enjoy the perk up for your workout.

So enjoy the cold!

QUOTE FOR THE WEEKEND:

Cotard delusion, also known as or nihilistic delusion or walking corpse syndrome or Cotard’s syndrome , is a rare mental disorder in which the affected person holds the delusional belief that they are already dead, do not exist, are putrefying, or have lost their blood or internal organs.

Healthline.com

Cotard’s syndrome

Cotard delusion, also known as or nihilistic delusion or walking corpse syndrome or Cotard’s syndrome , is a rare mental disorder in which the affected person holds the delusional belief that they are already dead, do not exist, are putrefying, or have lost their blood or internal organs.

Signs and Symptoms: 

One of the main symptoms of Cotard delusion is nihilism. Nihilism is the belief that nothing has any value or meaning. It can also include the belief that nothing really exists. People with Cotard delusion feel as if they’re dead or rotting away. In some cases, they might feel like they’ve never existed.

While some people feel this way about their entire body, others only feel it in regard to specific organs, limbs, or even their soul.

Depression is also closely related to Cotard delusion. A 2011 review of existing research about Cotard delusion notes that 89% of documented cases include depression as a symptom.

Other symptoms include:

  • anxiety
  • hallucinations
  • hypochondria
  • guilt
  • preoccupation with hurting yourself or death

Researchers aren’t sure what causes Cotard delusion, but there are a few possible risk factors. Several studies indicate that the average age of people with Cotard delusion is about 50. It can also occur in children and teenagers. People under the age of 25 with Cotard delusion tend to also have bipolar depression. Women also seem to be more likely to develop Cotard delusion.

In addition, Cotard delusion seems to occur more often in people who think their personal characteristics, rather than their environment, cause their behavior. People who believe that their environment causes their behavior are more likely to have a related condition called Capgras syndrome. This syndrome causes people to think their family and friends have been replaced by imposters. Cotard delusion and Capgras syndrome can also appear together.

Other mental health conditions that might increase someone’s risk of developing Cotard delusion include:

  • bipolar disorder
  • postpartum depression
  • catatonia
  • depersonalization disorder
  • dissociative disorder
  • psychotic depression
  • schizophrenia

Cotard delusion also seems to be associated with certain neurological conditions, including:

  • brain infections
  • brain tumors
  • dementia
  • epilepsy
  • migraines
  • multiple sclerosis
  • Parkinson’s disease
  • stroke
  • traumatic brain injuries

QUOTE FOR FRIDAY:

“Stone Man Syndrome. Extremely rare disease of connective tissue. A mutation of the body’s repair mechanism causes fibrous tissue (muscle, tendon, ligament) to be ossified when damaged. In some cases, injuries can cause joints to become permanently frozen in place. The gene that causes ossification is normally deactivated after a fetus bones are formed in the womb, but in patients with FOP, the gene keeps working.”

MAYO CLINIC

Fibrodysplasia Ossificans Progressiva/Stone Man Syndrome

Fibrodysplasia ossificans progressiva (FOP) 

It is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement.

This process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs. People with FOP are born with abnormal big toes (hallux valgus) which can be helpful in making the diagnosis. Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis). These flareups lasts for several days to months and often result in permanent bone growth in the injured area.

FOP is almost always caused by a mutation at the same place in the ACVR1 gene (The ACVR1 gene provides instructions for making the activin receptor type-1 (ACVR1) protein, which is a member of a protein family called bone morphogenetic protein (BMP) type I receptors.)  and is inherited in an autosomal dominant manner. This condition occurs in about 1 in 1,600,000 newborns and about 800 people worldwide are known to have FOP.

SIGNS AND SYMPTOMS

-Fibrodysplasia ossificans progressiva (FOP) is characterized by the gradual replacement of muscle tissue and connective tissue (such as tendons and ligaments) by bone, restricting movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.

-The formation of extra-skeletal bone causes progressive loss of mobility as the joints become affected. Speaking and eating may also become difficult as the mouth becomes affected. Over time, people with FOP may become malnourished because of the inability to eat. They may also develop breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs.

-Any trauma to the muscles of an individual with FOP (a fall or an invasive medical procedure) may trigger episodes of muscle swelling and inflammation followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as the flu.

-Affected individuals may also have short thumbs and other skeletal abnormalities.

Inheritance

-Fibrodysplasia ossificans progressiva is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

-Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In only a small number of cases, an affected person has inherited the mutation from one affected parent.

How this disease is diagnosed:

-Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

-The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

TREATMENT:

There is currently no definitive treatment.  However, a brief course of high-dose corticosteroids, such as Prednisone, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue swelling seen in the early stages of fibrodysplasia ossificans progressiva.  Other medications, such as muscle relaxants, mast cell inhibitors, and aminobisphosphonates, if appropriate, should be closely monitored by a physician.  Surgery to remove heterotopic and extra-skeletal bone is risky and can potentially cause painful new bone growth.

References:

 

  • Fibrodysplasia ossificans progressiva. Genetics Home Reference (GHR). August 2007; http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva.
  • FOP Fact Sheet. International Fibrodysplasia Ossificans Progressiva Association. http://www.ifopa.org/what-is-fop/overview.html. Accessed 6/5/2014.
  • Pignolo R, Kaplan F. Pediatric Fibrodysplasia Ossificans Progressiva. E-medicine. July 30, 2009; http://emedicine.medscape.com/article/1007104-overview. Accessed 3/17/2011